Variant report

Variant	esv3436850
Chromosome Location	chr5:146620759-146624957
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:146617599..146619376-chr5:146621089..146623393,2	K562	blood:

Extended variants
information (count: 168 )
Associated
traits (count: 75 )

Variant overlapped rSNPs/rCNVs (count:168 , 50 per page) page: 1 2 3 4

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs555732378	chr5:146620779-146620780	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs560428215	chr5:146620780-146620781	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs574172161	chr5:146620813-146620814	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs11167964	chr5:146620817-146620818	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs562823379	chr5:146620842-146620843	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs531659332	chr5:146620847-146620848	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs551349746	chr5:146620868-146620869	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs574229973	chr5:146620878-146620879	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs565168459	chr5:146620890-146620891	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs7442689	chr5:146620894-146620895	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs181210307	chr5:146620912-146620913	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs567034644	chr5:146620915-146620916	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs7442692	chr5:146620933-146620934	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs549389421	chr5:146620967-146620968	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs11167965	chr5:146620973-146620974	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs186485052	chr5:146620989-146620990	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs2400281	chr5:146620995-146620996	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
18	rs375396440	chr5:146621025-146621026	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs370528814	chr5:146621042-146621043	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs374315508	chr5:146621043-146621044	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs139842340	chr5:146621050-146621051	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs2400282	chr5:146621065-146621066	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs377097434	chr5:146621067-146621068	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs80273912	chr5:146621069-146621070	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs376553105	chr5:146621070-146621071	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs534167696	chr5:146621073-146621074	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs369685021	chr5:146621075-146621076	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs372398887	chr5:146621076-146621077	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs147092932	chr5:146621121-146621122	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs113086369	chr5:146621133-146621134	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs543115221	chr5:146621144-146621145	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562884267	chr5:146621157-146621158	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs191027163	chr5:146621182-146621183	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs77018527	chr5:146621184-146621185	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs59490055	chr5:146621192-146621193	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs138381589	chr5:146621271-146621272	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs540874582	chr5:146621278-146621279	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs75159402	chr5:146621324-146621325	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs149596418	chr5:146621338-146621339	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs549501508	chr5:146621344-146621345	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs144233181	chr5:146621399-146621400	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs532058163	chr5:146621457-146621458	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs4705133	chr5:146621504-146621505	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
44	rs4705134	chr5:146621540-146621541	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs17465991	chr5:146621550-146621551	Weak transcription Strong transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
46	rs181045034	chr5:146621584-146621585	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs544486511	chr5:146621593-146621594	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs187220765	chr5:146621598-146621599	Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs556721968	chr5:146621609-146621610	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs564653384	chr5:146621619-146621620	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:75)

Disease	PMID	Source
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Gastrointestinal stromal cancer	16982739	CNVD
Medulloblastoma	21979893	CNVD
Phyllodes tumor	17334353	CNVD
Malaria	21533027	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	20164919	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Cancer	16751803	CNVD
Intellectual disability	22102821	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Melanoma	18172304	CNVD
Glioma	20126413	CNVD
Cancer	22429812	CNVD
Cancer	21637783	CNVD
Colorectal cancer	20709793	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Liposarcoma	21253554	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	17387387	CNVD
Breast cancer	21858162	CNVD
Leukemia	17361228	CNVD
Myelodysplastic syndrome	18508791	CNVD
5q-syndrome	17576883	CNVD
Gastric cancer	17908304	CNVD
Lung cancer	16740712	CNVD
Oral squamous cell carcinoma	17134496	CNVD
Urothelial carcinoma	21177765	CNVD
Esophageal adenocarcinoma	19417022	CNVD
Barrett''s syndrome	19417022	CNVD
Lung cancer	18438408	CNVD
Thyroid cancer	19087340	CNVD
Breast cancer	21785460	CNVD
Breast cancer	17133270	CNVD
Acute myeloid leukemia	20729466	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Myelodysplastic syndrome	21251322	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Multiple myeloma	17550852	CNVD
Salivary gland tumor	18059337	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Renal cell carcinoma	19377443	CNVD
Gastrointestinal stromal cancer	19259404	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Renal cell carcinoma	18592004	CNVD
Acute myeloid leukemia	16864856	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
Hirschsprung''s Disease	21712996	CNVD
Myelofibrosis	22110671	CNVD
Non-small cell lung cancer	20864512	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Basal cell lymphoma	17053054	CNVD
Congenital anomalies of the kidney and urinary tract	18316590	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:146615000-146620800	Weak transcription	Psoas Muscle	Psoas
2	chr5:146615000-146621600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr5:146615200-146621400	Weak transcription	Aorta	Aorta
4	chr5:146616400-146628000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:146619000-146624200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr5:146620000-146621600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr5:146620400-146621600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:146621600-146621800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr5:146621600-146622000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr5:146621600-146622200	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr5:146622200-146640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr5:146624200-146626000	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr5:146624800-146627200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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